nsv5035208
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,637,135
- Publication(s):Abel et al. 2020
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 13874 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 13806 SVs from 121 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5035208 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 48,120,093 (-1, +1) | 50,757,227 (-1) | ||
nsv5035208 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 48,515,910 (-1, +1) | 51,195,655 (-1) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16587033 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16587033 | Submitted genomic | NC_000022.11:g.(48 120092_48120094)_( 50757226_?)del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 48,120,093 (-1, +1) | 50,757,227 (-1) | ||
nssv16587033 | Remapped | Good | NC_000022.10:g.(48 515909_48515911)_( 51195654_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 48,515,910 (-1, +1) | 51,195,655 (-1) |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
---|---|---|---|
nssv16587033 | <0.001 | 1 | 29246 |